Product Details

SNP ID

rs140483872

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1481897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTCACGGCCAGGAGGCTCAGCAC[C/G]ATGGCCGAGGCTGGGCAGCGGTGGT

Phenotype

MIM: 612034 MIM: 600487 MIM: 609346

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APC2 PubMed Links

Gene Details

Gene

APC2

Gene Name

APC2, WNT signaling pathway regulator

There are no transcripts associated with this gene.

Gene

C19orf25

Gene Name

chromosome 19 open reading frame 25

There are no transcripts associated with this gene.

Gene

PCSK4

Gene Name

proprotein convertase subtilisin/kexin type 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017573.4	1794	Missense Mutation	ATC,ATG	I710M	NP_060043.2
XM_005259586.1	1794	Missense Mutation	ATC,ATG	I522M	XP_005259643.1
XM_011528085.2	1794	Missense Mutation	ATC,ATG	I737M	XP_011526387.1
XM_011528086.2	1794	Missense Mutation	ATC,ATG	I728M	XP_011526388.1
XM_011528087.2	1794	Missense Mutation	ATC,ATG	I679M	XP_011526389.1
XM_011528088.2	1794	Missense Mutation	ATC,ATG	I675M	XP_011526390.1
XM_011528089.2	1794	Missense Mutation	ATC,ATG	I643M	XP_011526391.1
XM_011528090.2	1794	Missense Mutation	ATC,ATG	I616M	XP_011526392.1
XM_011528091.2	1794	Missense Mutation	ATC,ATG	I613M	XP_011526393.1
XM_011528092.2	1794	Intron			XP_011526394.1
XM_011528093.2	1794	UTR 3			XP_011526395.1
XM_011528094.1	1794	Missense Mutation	ATC,ATG	I522M	XP_011526396.1
XM_011528095.2	1794	Intron			XP_011526397.1
XM_011528096.1	1794	Missense Mutation	ATC,ATG	I488M	XP_011526398.1
XM_017026897.1	1794	Intron			XP_016882386.1

Gene

REEP6

Gene Name

receptor accessory protein 6

There are no transcripts associated with this gene.

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